Intellectual Developmental Disorder, Autosomal Dominant 46 (MRD46)

Intellectual Developmental Disorder, Autosomal Dominant 46, also known as autosomal dominant intellectual developmental disorder 46, is related to paternal uniparental disomy of chromosome 6 and neonatal diabetes. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 46 is KCNQ5 (Potassium Voltage-Gated Channel Subfamily Q Member 5). Affiliated tissues include brain, and related phenotypes are intellectual disability and hypotonia